Reg. No. 1024 Accreditation for medical examination
Page: 1
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IUPAC
System
Component
Method
Equipment/Principle
Location
Genomic DNA from
blood, CVS, amniotic fluid, saliva, tissue biopsy, cell culture Genomisk DNA oprenset fra
blod, CVS, amnion, spyt, vævsbiopsi, dyrkede celler
DNA purification DNA oprensning
643888, 480517 643888, 480517
DNA purification using MaxWell RSC or Tecan Freedom EVO DNA oprensning med MaxWell RSC eller Tecan Freedom EVO
Chromosomes from cell culture on blood, CVS, amniotic fluid and cultured cells (fibroblasts).
Chromosomes without cell culture on blood, CVS, amniotic fluid. Kromosomer fra celledyrkning på blod, CVS, amnion og dyrkede celler (fibroblaster).
Kromosomer uden celledyrkning på blod, CVS og amnion.
Cell culture, Fluorescense In Situ Hybridization Celledyrkning, Fluorescens In Situ Hybridization
Genomic DNA from blood, CVS, amniotic fluid, saliva, cultured cells (fibroblasts). Genomisk DNA fra blod, CVS, amnion, spyt og dyrkede celler (fibroblaster).
Array, SNP Genomewide CNV/LOH Array, SNP Genomewide CNV/LOH
Cell culture, DNA purification, Array on Affymetrix CytoScan 750K or CytoScan HD. Celledyrkning, DNA oprensning, Array på Affymetrix CytoScan 750K eller CytoScan HD.
Genomic DNA from blood, amniotic fluid, CVS and cultured cells (fibroblasts). Genomisk DNA fra blod, amnion, CVS og dyrkede celler (fibroblaster).
Cell culture, DNA purification, MS-MLPA (MRC Holland), array (Affymetrix CytoScan) Celledyrkning, DNA oprensning, MS-MLPA (MRC Holland), array (Affymetrix CytoScan)
Genomic DNA from blood, CVS, amniotic fluid and skin biopsy Genomisk DNA fra blod, CVS, amnion og hudbiopsi
Temple syndrome Temple syndrom
181497, 417262 181497, 417262
DNA purification, MS-MLPA (MRC Holland) MS-MLPA (MRC Holland)
Genomic DNA from blood, CVS, amniotic fluid and skin biopsy Genomisk DNA fra blod, CVS, amnion og hudbiopsi
Kagami-Ogata syndrome Kagami-Ogata syndrom
181497, 417262 181497, 417262
DNA purification, MS-MLPA (MRC Holland) DNA oprensning, MS-MLPA (MRC Holland)
NPU19079
Genomic DNA from blood, CVS Genomisk DNA fra blod, CVS
FMR1-gene;DNA FMR1-gen;DNA
Fragile X syndrome
225073, 385586 Fragilt X syndrom
225073, 385586
DNA purification, Fragment analysis using AmplideX FMR1 PCR kit on ABI 3730XL DNA Analyzer DNA oprensning, Fragment analyse med AmplideX FMR1 PCR kit på ABI 3730XL DNA Analyzer
NPU35855
Genomic DNA from blood, CVS, amniotic fluid and skin biopsy Genomisk DNA fra blod, CVS, amnion og hudbiopsi
Uniparental disomy, chromosome 7; DNA Uniparental disomi, kromosom 7;DNA
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Hereditary pancreatitis panel
Version 1 011122. Hereditær pancreatitis panel
Version 1 011122.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
NPU53990
Genomic DNA purified from plasma from pregnant mother. Genomisk DNA oprenset fra plasma fra den gravide.
NIPT NIPT
507419, 670441, 509956 507419, 670441, 509956
DNA purification using QIAmp kit. Sample prep using ThruPlex Plasma-seq kit. NGS using Illumina NovaSeq 6000.
Bioinformatics using Wisecondor og SeqFF.
DNA oprensning med QIAmp kit. Sample prep med ThruPlex Plasma-seq kit.NGS med Illumina NovaSeq 6000.
Bioinformatik med Wisecondor og SeqFF.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Erythropoietic Protoporphyria panel
Version 1 011122 Erythropoietisk protoporfyri panel
Version 1 011122
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Acute porphyria panel
Version 1 011122 Akutte porfyrier panel
Version 1 011122
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Alport syndrome panel
Version 1 011122. Alport syndrom panel
Version 1 011122.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Thin basement membrane disease
Version 1 011122. Tynd basalmembransygdom
Version 1 011122.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Hereditary mammary cancer
Version 1 011122. Arvelig mammacancer panel
Version 1 011122.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Hereditary melanoma panel
Version 1 011122. Arvelig malignt melanom panel
Version 1 011122.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Hereditary mammary and ovarian cancer panel
Version 1 011122. Arvelig mamma og ovariecancer panel
Version 1 011122.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Lynch syndrome panel
Version 1 011122. Lynch syndrom panel
Version 1 011122.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Hereditary ovarian cancer panel
Version 1 011122. Arvelig ovariecancer panel
Version 1 011122.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Hereditary colorectal cancer/polyp panel
Version 1 011122. Arvelig colorectal cancer/polyp panel
Version 1 011122.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Hyperinsulin hypoglyk 1,2,3,6 panel
Version 1 011122. Hyperinsulin hypoglyk 1,2,3,6 panel
Version 1 011122.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Hyperinsulin hypoglyk extended panel
Version 1 011122. Hyperinsulin hypoglyk udvidet panel
Version 1 011122.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Monogen diab. mel. MODY 1-5 panel
Version 011122 Monogen diab. mel. MODY 1-5 panel
Version 011122
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Monogen diab. mel. MODY 1-13 panel
Version 011122. Monogen diab. mel. MODY 1-13 panel
Version 011122.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing, MLPA and VNTR (CEL-gene) using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA og VNTR (CEL-gen) med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Neonatal dia.mel. PNDM/TNDM panel
Version 011122. Neonatal dia.mel. PNDM/TNDM panel
Version 011122.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood Genomisk DNA fra blod
Neonatal dia.mel. PNDM/TNDM extended oanel
Version 011122 Neonatal dia.mel. PNDM/TNDM udvpanel
Version 011122
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood, CVS, amniotic fluid, tissue biopsy (product of conception, skin biopsy, achilles tendon) Genomisk DNA fra blod, CVS, amnion, vævsbiopsi (abortvæv, hudbiopsi, achillessene)
Genome, DNA Genom;DNA
775875 or 1066077, 849870, 553923 775875 eller 1066077, 849870, 553923
DNA purification. NGS using Illumina NovaSeq 6000. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. NGS med Illumina NovaSeq 6000. Bioinformatik med Illumina Dragen Bio-IT platform.
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Array using Affymetrix Cytoscan HD. Bioinformatics using Illumina Dragen Bio-IT platform. DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering og MLPA med ABI 3730XL DNA analyzer. Array på Affymetrix CytoScan 750K eller CytoScan HD. Bioinformatik med Illumina Dragen Bio-IT platform.